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- Journal Article
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- open access
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
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- Journal Article
- A1
- open access
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility
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Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix
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Introducing curcumin biosynthesis in Arabidopsis enhances lignocellulosic biomass processing
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Improved label-free identification of individual exosome-like vesicles with Au@Ag nanoparticles as SERS substrate
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Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome
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Leveraging the low-dispersion COBALT/ARIS ablation system for multi-megapixel 3D images of single cells
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- Journal Article
- A1
- open access
Physical and functional interaction between A20 and ATG16L1-WD40 domain in the control of intestinal homeostasis
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Two novel probands with Myhre syndrome identified through WES
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Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum